|Institutional Source||Beutler Lab|
|Gene Name||charged multivesicular body protein 4B|
|Synonyms||chromatin modifying protein 4B, 2010012F05Rik, Snf7-2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1717 (G1)|
|Chromosomal Location||154651705-154694785 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 154657320 bp|
|Amino Acid Change||Isoleucine to Valine at position 47 (I47V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036206 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044277]|
|Predicted Effect||possibly damaging
AA Change: I47V
PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: I47V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.078|
|Coding Region Coverage||
|Validation Efficiency||98% (81/83)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene trap insertion die between E7.5 and E8.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chmp4b||
(F):5'- AAGATGCGCCATAGTACGCCAG -3'
(R):5'- TGATGCAAGTGAACCGGCTCAAG -3'
(F):5'- AACTCAGACTCCCGGCTTG -3'
(R):5'- TGAACCGGCTCAAGGAGAC -3'